Variant report

Variant	rs11701378
Chromosome Location	chr21:46388609-46388610
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	USF1	chr21:46388362-46388612	K562	blood:	n/a	chr21:46388553-46388569
2	POLR2A	chr21:46387910-46388714	HL-60	blood:	n/a	n/a
3	POLR2A	chr21:46387608-46388702	HL-60	blood:	n/a	n/a
4	MAX	chr21:46387632-46388645	Hela-S3	cervix:	n/a	chr21:46388273-46388283 chr21:46388557-46388567 chr21:46388302-46388312
5	BHLHE40	chr21:46388076-46388639	K562	blood:	n/a	chr21:46388553-46388569
6	POLR2A	chr21:46387626-46388717	K562	blood:	n/a	n/a
7	CEBPB	chr21:46387667-46388658	Hela-S3	cervix:	n/a	n/a
8	POLR2A	chr21:46388154-46388662	K562	blood:	n/a	n/a
9	ZNF384	chr21:46388482-46388721	K562	blood:	n/a	n/a
10	NR2F2	chr21:46388088-46388614	K562	blood:	n/a	n/a
11	POLR2A	chr21:46388081-46388644	K562	blood:	n/a	n/a
12	JUN	chr21:46387916-46388705	K562	blood:	n/a	chr21:46387955-46387962 chr21:46388533-46388544
13	MYC	chr21:46388203-46388649	K562	blood:	n/a	chr21:46388273-46388283 chr21:46388557-46388567 chr21:46388302-46388312
14	GATA1	chr21:46388081-46388676	PBDE	blood:	n/a	chr21:46388394-46388411
15	MAX	chr21:46387713-46388628	NB4	blood:	n/a	chr21:46388273-46388283 chr21:46388557-46388567 chr21:46388302-46388312
16	MAX	chr21:46388034-46388668	K562	blood:	n/a	chr21:46388273-46388283 chr21:46388557-46388567 chr21:46388302-46388312
17	POLR2A	chr21:46388027-46388615	K562	blood:	n/a	n/a
18	HCFC1	chr21:46387452-46388735	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr21:46387463..46395588-chr21:46492597..46498092,12	K562	blood:
2	chr21:46387032..46389639-chr21:46431264..46433004,2	K562	blood:
3	chr21:46382465..46395146-chr21:46491921..46496809,22	K562	blood:
4	chr21:46374315..46377421-chr21:46386112..46389411,4	K562	blood:
5	chr21:46377930..46382021-chr21:46384399..46389037,6	MCF-7	breast:
6	chr21:46388301..46390286-chr21:46392364..46394204,2	MCF-7	breast:
7	chr21:46383415..46387138-chr21:46387996..46392405,6	MCF-7	breast:
8	chr21:46368238..46371642-chr21:46387685..46392289,4	MCF-7	breast:
9	chr21:46388304..46391941-chr21:46405140..46408230,3	MCF-7	breast:
10	chr21:46387514..46391451-chr21:46403174..46406984,4	K562	blood:
11	chr21:46387326..46389294-chr21:46542023..46543987,2	MCF-7	breast:
12	chr21:46373821..46376741-chr21:46385880..46388857,2	MCF-7	breast:
13	chr21:46380346..46382213-chr21:46387427..46389654,2	K562	blood:

Variant related genes	Relation type
FAM207A	TF binding region
ENSG00000268856	Chromatin interaction
ENSG00000160256	Chromatin interaction
ENSG00000235374	Chromatin interaction
ENSG00000197381	Chromatin interaction

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11701457	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11702593	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2005951	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2294166	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2294168	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2294170	0.83[ASN][1000 genomes]
rs2838742	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2838743	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2838745	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28399723	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28461900	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4143368	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4818743	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4818748	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4818749	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4818990	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4818993	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs55716911	0.85[ASN][1000 genomes]
rs55859454	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs56213773	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62214491	0.80[ASN][1000 genomes]
rs62214513	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:31 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916258	chr21:45995986-46624705	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	102 gene(s)	inside rSNPs	diseases
2	nsv1056513	chr21:46254075-46442759	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv913969	chr21:46279505-46472929	Enhancers Strong transcription Bivalent/Poised TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv913970	chr21:46305175-46487831	Bivalent Enhancer Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
5	nsv913974	chr21:46306161-46430792	Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Enhancers Bivalent/Poised TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
6	nsv913975	chr21:46306161-46459432	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
7	nsv913976	chr21:46306161-46487831	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
8	nsv834110	chr21:46316183-46505151	Bivalent/Poised TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
9	nsv1064518	chr21:46317690-46413159	Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
10	nsv913977	chr21:46335761-46454391	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
11	nsv913978	chr21:46335761-46466674	Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription Bivalent/Poised TSS Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
12	nsv913979	chr21:46335761-46472929	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
13	nsv913980	chr21:46337565-46454391	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
14	nsv913981	chr21:46344426-46408790	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
15	nsv913982	chr21:46344426-46430792	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
16	nsv913984	chr21:46344426-46435610	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
17	nsv913983	chr21:46344426-46440385	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
18	nsv913985	chr21:46344426-46448142	Weak transcription Genic enhancers Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
19	nsv913986	chr21:46344426-46466674	Strong transcription Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
20	nsv913987	chr21:46344426-46472929	Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
21	nsv913988	chr21:46356816-46408790	Genic enhancers Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
22	nsv913989	chr21:46356816-46430792	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
23	nsv913990	chr21:46356816-46448142	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
24	nsv913991	chr21:46356816-46472929	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
25	nsv544480	chr21:46364856-46413159	Flanking Active TSS Weak transcription Genic enhancers Enhancers Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
26	nsv913992	chr21:46366547-46408790	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
27	nsv913993	chr21:46376528-46448142	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
28	nsv913994	chr21:46376528-46454391	Strong transcription Enhancers Active TSS Genic enhancers Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
29	nsv913995	chr21:46376528-46466674	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
30	nsv913996	chr21:46383941-46459432	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
31	nsv913997	chr21:46383941-46472929	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:46361600-46389200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr21:46364200-46391400	Strong transcription	Dnd41	blood
3	chr21:46380000-46396600	Weak transcription	Brain Substantia Nigra	brain
4	chr21:46380200-46402600	Weak transcription	Aorta	Aorta
5	chr21:46381200-46391200	Enhancers	Fetal Heart	heart
6	chr21:46381200-46396400	Weak transcription	Psoas Muscle	Psoas
7	chr21:46381600-46389400	Weak transcription	NHDF-Ad	bronchial
8	chr21:46382800-46404800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr21:46383600-46390400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
10	chr21:46384200-46390000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr21:46384200-46391200	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr21:46384200-46391400	Strong transcription	H1 Cell Line	embryonic stem cell
13	chr21:46384200-46399600	Strong transcription	Fetal Intestine Small	intestine
14	chr21:46384600-46389800	Genic enhancers	Fetal Thymus	thymus
15	chr21:46384800-46389000	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
16	chr21:46384800-46389400	Strong transcription	iPS-15b Cell Line	embryonic stem cell
17	chr21:46384800-46390000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr21:46384800-46390600	Enhancers	Primary monocytes fromperipheralblood	blood
19	chr21:46385000-46393200	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr21:46385000-46401400	Strong transcription	Thymus	Thymus
21	chr21:46385200-46390000	Enhancers	Primary B cells from cord blood	blood
22	chr21:46385200-46393000	Genic enhancers	Fetal Muscle Leg	muscle
23	chr21:46385400-46393000	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
24	chr21:46385400-46393800	Genic enhancers	Fetal Muscle Trunk	muscle
25	chr21:46385600-46389400	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr21:46385800-46393000	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr21:46386000-46389400	Weak transcription	HSMMtube	muscle
28	chr21:46386000-46389400	Weak transcription	Osteobl	bone
29	chr21:46386200-46389600	Weak transcription	HSMM	muscle
30	chr21:46386200-46391200	Genic enhancers	Fetal Stomach	stomach
31	chr21:46386200-46393200	Genic enhancers	Spleen	Spleen
32	chr21:46386400-46392400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr21:46386400-46400600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
34	chr21:46386600-46389200	Strong transcription	Primary B cells from peripheral blood	blood
35	chr21:46386600-46389400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr21:46386600-46389400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr21:46386600-46391200	Genic enhancers	Lung	lung
38	chr21:46386800-46389400	Strong transcription	HUES6 Cell Line	embryonic stem cell
39	chr21:46386800-46390000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
40	chr21:46386800-46390000	Genic enhancers	Primary T helper cells fromperipheralblood	blood
41	chr21:46386800-46400600	Weak transcription	Small Intestine	intestine
42	chr21:46387000-46390200	Genic enhancers	Primary T cells fromperipheralblood	blood
43	chr21:46387000-46391200	Strong transcription	Sigmoid Colon	Sigmoid Colon
44	chr21:46387200-46389000	Weak transcription	NH-A	brain
45	chr21:46387200-46389400	Strong transcription	NHLF	lung
46	chr21:46387200-46390000	Genic enhancers	Primary T helper cells PMA-I stimulated	--
47	chr21:46387200-46390200	Strong transcription	HUES64 Cell Line	embryonic stem cell
48	chr21:46387200-46390200	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
49	chr21:46387200-46390200	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr21:46387200-46390400	Strong transcription	iPS-20b Cell Line	embryonic stem cell

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